This study will determine what growth factors are involved in promoting and inhibiting
mastocytosis-an abnormal increase of mast cells in one or more organ systems. Mast cells
release chemicals that can cause itching, blisters, flushing, bone pain, and abdominal pain.
Little is known about the disease and there is no cure. Steroids and antihistamines can help
reduce some symptoms.
Patients from birth to 80 years of age with increased mast cells in at least one organ
system may be eligible for this 3-year study. Family members may also be enrolled for
Patients will be evaluated yearly at the NIH Clinical Center with the following tests and
- Medical history and physical examination.
- Blood samples.
- Laboratory blood tests, as medically indicated.
- Bone marrow aspiration and biopsy - For the bone marrow aspiration and biopsy, the back
hipbone is punctured with a sterile needle. Five milliliters (1 teaspoon) of marrow is
withdrawn through a syringe and a 1/2-inch piece of tissue is extracted with a special
The blood and bone marrow samples will be used for clinical care and for research to
determine if mastocytosis is due to mast cell growth factors or genetic changes.
Patients who require further evaluation and tests will have recommendations made to their
primary physician. Any patient who requires immediate treatment will be admitted to the
hospital. Standard medical treatment may include antihistamines for itching; steroids for
severe abdominal symptoms such as cramping, diarrhea, and evidence of increased mast cells
determined by an upper GI study; and adrenaline for anaphylactic shock. Patients who do not
respond to conventional treatment may be offered participation in an experimental therapy
Participating family members will have a medical history and a blood sample drawn to look
for genetic abnormalities.
This protocol is designed to examine those growth potentiating and inhibiting factors which
regulate mast cell number in patients with mastocytosis, and to explore the molecular basis
of the disease process in hopes of improving therapy. Patients entered into the study are
seen initially and may elect to be reevaluated yearly. The majority of patients to be
entered into this protocol are currently followed at NIH on other protocols. Medical workup
and treatment are in accordance with standard medical practice. The protocol is for 3
years, to be extended as facilities, faculty, and patients permit.
Subjects include children and adults from birth to 80 years of age.
Participants must have histologic evidence of an increased mast cell number in at least
one organ system.
Must be willing to be seen at the NIH according to protocol guidelines.
Routine medical care must be available through their referral physician.
Patients with mastocytosis now followed at the NIH on protocol 88-I-0190 will be continued
on this study.